Christophe Guiraud-Chaumeil

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23

Pascale Bomont, Mitsunory Watanabe, Ruth Gershoni-Barush et al. · European Journal of Human Genetics · 2000 · 73 citations · Full text

Neurodegenerative Diseases, Peripheral Neuropathy, Homozygosity Mapping +11

Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron disease

Andoni Echaniz‐Laguna, Christophe Guiraud-Chaumeil, Christine Tranchant et al. · Journal of Neurology · 2002 · 41 citations

Neurodegenerative Diseases, Smn Centromeric Gene, Neurological Disorder +9

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in theMTM1 gene

Stephan M. Tanner, Jocelyn Laporte, Christophe Guiraud-Chaumeil et al. · Human Mutation · 1998 · 36 citations

Mendelian Disorder, Prenatal Diagnosis Results, Genetic Disorder +12

Is clonidine growth hormone stimulation a good test to differentiate multiple system atrophy from idiopathic Parkinson's disease?

C. Trachant, Christophe Guiraud-Chaumeil, Andoni Echaniz‐Laguna et al. · Journal of Neurology · 2000 · 29 citations

Idiopathic Parkinson, Good Test, Parkinson Disease +8

Basis of phenotypic variability in sporadic Creutzfeldt–Jakob disease

Christine Tranchant, L. Geranton, Christophe Guiraud-Chaumeil et al. · Neurology · 1999 · 27 citations